Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: Functional analysis and association with polymorphic haplotypes and two clinical phenotypes

Kaoru Wataya, Jun Akanuma, Patrizia Cavadini, Yoko Aoki, Shigeo Kure, Federica Invernizzi, Ichiro Yoshida, Jun Ichi Kira, Franco Taroni, Yoichi Matsubara, Kuniaki Narisawa

研究成果: Article › 査読

36 被引用数 (Scopus)

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「Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: Functional analysis and association with polymorphic haplotypes and two clinical phenotypes」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。

Biochemistry, Genetics and Molecular Biology

Pharmacology, Toxicology and Pharmaceutical Science